A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665469



Internal ID9931574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59729638..59773254hg38UCSC Ensembl
chr8:60642197..60685813hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3843617
hg1943617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6445984, essv5884572
SamplesNA18628, HG00513
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665469
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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